Variant report

Variant	rs7980190
Chromosome Location	chr12:1839598-1839599
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1838787..1840977-chr12:1852855..1855148,3	K562	blood:
2	chr12:1799601..1802514-chr12:1838626..1842574,3	K562	blood:

Variant related genes	Relation type
ENSG00000006831	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11835505	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12814293	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34091406	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34745668	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35018150	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7297514	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975600	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7976209	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv832304	chr12:1710249-1868642	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv832305	chr12:1769852-1936054	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv948480	chr12:1776217-2284333	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv1045312	chr12:1805856-1843202	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1802400-1841200	Weak transcription	HMEC	breast
2	chr12:1806000-1840000	Weak transcription	Spleen	Spleen
3	chr12:1806200-1844400	Weak transcription	NHEK	skin
4	chr12:1807200-1847400	Weak transcription	Fetal Stomach	stomach
5	chr12:1816200-1849400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:1816200-1857800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:1816200-1866400	Weak transcription	Esophagus	oesophagus
8	chr12:1816200-1897400	Weak transcription	Aorta	Aorta
9	chr12:1816400-1840200	Weak transcription	Colonic Mucosa	Colon
10	chr12:1816400-1841400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:1816400-1841400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr12:1816600-1846200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:1817000-1856600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:1823000-1866600	Weak transcription	Gastric	stomach
15	chr12:1824000-1849400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:1824000-1849600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:1824000-1850400	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr12:1824000-1866600	Weak transcription	HSMM	muscle
19	chr12:1824800-1846600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:1824800-1849400	Weak transcription	Thymus	Thymus
21	chr12:1825000-1849000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr12:1825000-1849400	Weak transcription	Fetal Thymus	thymus
23	chr12:1825200-1846600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:1825200-1850200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:1825200-1855400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr12:1826000-1846800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:1826000-1849200	Weak transcription	Primary B cells from peripheral blood	blood
28	chr12:1826000-1885400	Weak transcription	NH-A	brain
29	chr12:1826200-1846600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr12:1826200-1849400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr12:1826200-1849600	Weak transcription	A549	lung
32	chr12:1826400-1846800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr12:1826400-1849200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr12:1826600-1840200	Weak transcription	Primary B cells from cord blood	blood
35	chr12:1828000-1840200	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr12:1828600-1855800	Weak transcription	Fetal Intestine Large	intestine
37	chr12:1828800-1840200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:1828800-1847200	Weak transcription	Fetal Muscle Leg	muscle
39	chr12:1829200-1846000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:1829200-1849400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr12:1829400-1840000	Weak transcription	Fetal Lung	lung
42	chr12:1830000-1839800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:1830000-1841600	Weak transcription	Stomach Mucosa	stomach
44	chr12:1830000-1847000	Weak transcription	Colon Smooth Muscle	Colon
45	chr12:1831200-1849400	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr12:1831200-1850000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:1831400-1849400	Weak transcription	Hela-S3	cervix
48	chr12:1831400-1857800	Weak transcription	Lung	lung
49	chr12:1831600-1840600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr12:1831600-1846800	Weak transcription	Right Atrium	heart

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